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Q9BVK2

- ALG8_HUMAN

UniProt

Q9BVK2 - ALG8_HUMAN

Protein

Probable dolichyl pyrophosphate Glc1Man9GlcNAc2 alpha-1,3-glucosyltransferase

Gene

ALG8

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 126 (01 Oct 2014)
      Sequence version 2 (03 Apr 2007)
      Previous versions | rss
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    Functioni

    Adds the second glucose residue to the lipid-linked oligosaccharide precursor for N-linked glycosylation. Transfers glucose from dolichyl phosphate glucose (Dol-P-Glc) onto the lipid-linked oligosaccharide Glc1Man9GlcNAc(2)-PP-Dol By similarity.By similarity

    Catalytic activityi

    Dolichyl beta-D-glucosyl phosphate + D-Glc-alpha-(1->3)-D-Man-alpha-(1->2)-D-Man-alpha-(1->2)-D-Man-alpha-(1->3)-[D-Man-alpha-(1->2)-D-Man-alpha-(1->3)-(D-Man-alpha-(1->2)-D-Man-alpha-(1->6))-D-Man-alpha-(1->6)]-D-Man-beta-(1->4)-D-GlcNAc-beta-(1->4)-D-GlcNAc-diphosphodolichol = D-Glc-alpha-(1->3)-D-Glc-alpha-(1->3)-D-Man-alpha-(1->2)-D-Man-alpha-(1->2)-D-Man-alpha-(1->3)-[D-Man-alpha-(1->2)-D-Man-alpha-(1->3)-(D-Man-alpha-(1->2)-D-Man-alpha-(1->6))-D-Man-alpha-(1->6)]-D-Man-beta-(1->4)-D-GlcNAc-beta-(1->4)-D-GlcNAc-diphosphodolichol + dolichyl phosphate.

    Pathwayi

    GO - Molecular functioni

    1. alpha-1,3-mannosyltransferase activity Source: UniProtKB

    GO - Biological processi

    1. cellular protein metabolic process Source: Reactome
    2. dolichol-linked oligosaccharide biosynthetic process Source: Reactome
    3. mannosylation Source: GOC
    4. post-translational protein modification Source: Reactome
    5. protein N-linked glycosylation Source: UniProtKB
    6. protein N-linked glycosylation via asparagine Source: Reactome

    Keywords - Molecular functioni

    Glycosyltransferase, Transferase

    Enzyme and pathway databases

    ReactomeiREACT_22433. Biosynthesis of the N-glycan precursor (dolichol lipid-linked oligosaccharide, LLO) and transfer to a nascent protein.
    UniPathwayiUPA00378.

    Protein family/group databases

    CAZyiGT57. Glycosyltransferase Family 57.

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Probable dolichyl pyrophosphate Glc1Man9GlcNAc2 alpha-1,3-glucosyltransferase (EC:2.4.1.265)
    Alternative name(s):
    Asparagine-linked glycosylation protein 8 homolog
    Dol-P-Glc:Glc(1)Man(9)GlcNAc(2)-PP-dolichyl alpha-1,3-glucosyltransferase
    Dolichyl-P-Glc:Glc1Man9GlcNAc2-PP-dolichyl glucosyltransferase
    Gene namesi
    Name:ALG8
    ORF Names:HUSSY-02
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 11

    Organism-specific databases

    HGNCiHGNC:23161. ALG8.

    Subcellular locationi

    GO - Cellular componenti

    1. endoplasmic reticulum membrane Source: Reactome
    2. integral component of membrane Source: UniProtKB-KW

    Keywords - Cellular componenti

    Endoplasmic reticulum, Membrane

    Pathology & Biotechi

    Involvement in diseasei

    Congenital disorder of glycosylation 1H (CDG1H) [MIM:608104]: A multisystem disorder caused by a defect in glycoprotein biosynthesis and characterized by under-glycosylated serum glycoproteins. Congenital disorders of glycosylation result in a wide variety of clinical features, such as defects in the nervous system development, psychomotor retardation, dysmorphic features, hypotonia, coagulation disorders, and immunodeficiency. The broad spectrum of features reflects the critical role of N-glycoproteins during embryonic development, differentiation, and maintenance of cell functions.1 Publication
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti47 – 471T → P in CDG1H. 1 Publication
    VAR_023480
    Natural varianti275 – 2751G → D in CDG1H. 1 Publication
    VAR_023482

    Keywords - Diseasei

    Congenital disorder of glycosylation, Disease mutation

    Organism-specific databases

    MIMi608104. phenotype.
    Orphaneti79325. ALG8-CDG.
    PharmGKBiPA134942124.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 526526Probable dolichyl pyrophosphate Glc1Man9GlcNAc2 alpha-1,3-glucosyltransferasePRO_0000174162Add
    BLAST

    Proteomic databases

    MaxQBiQ9BVK2.
    PaxDbiQ9BVK2.
    PRIDEiQ9BVK2.

    PTM databases

    PhosphoSiteiQ9BVK2.

    Expressioni

    Gene expression databases

    ArrayExpressiQ9BVK2.
    BgeeiQ9BVK2.
    CleanExiHS_ALG8.
    GenevestigatoriQ9BVK2.

    Organism-specific databases

    HPAiHPA051898.

    Interactioni

    Protein-protein interaction databases

    BioGridi122511. 5 interactions.
    IntActiQ9BVK2. 2 interactions.
    STRINGi9606.ENSP00000299626.

    Structurei

    3D structure databases

    ProteinModelPortaliQ9BVK2.
    ModBaseiSearch...
    MobiDBiSearch...

    Transmembrane

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Transmembranei4 – 2421HelicalSequence AnalysisAdd
    BLAST
    Transmembranei103 – 12220HelicalSequence AnalysisAdd
    BLAST
    Transmembranei143 – 16321HelicalSequence AnalysisAdd
    BLAST
    Transmembranei188 – 20821HelicalSequence AnalysisAdd
    BLAST
    Transmembranei238 – 25821HelicalSequence AnalysisAdd
    BLAST
    Transmembranei334 – 35421HelicalSequence AnalysisAdd
    BLAST
    Transmembranei368 – 38821HelicalSequence AnalysisAdd
    BLAST
    Transmembranei389 – 40921HelicalSequence AnalysisAdd
    BLAST
    Transmembranei427 – 44923HelicalSequence AnalysisAdd
    BLAST
    Transmembranei461 – 48121HelicalSequence AnalysisAdd
    BLAST
    Transmembranei488 – 50821HelicalSequence AnalysisAdd
    BLAST

    Family & Domainsi

    Sequence similaritiesi

    Keywords - Domaini

    Transmembrane, Transmembrane helix

    Phylogenomic databases

    eggNOGiNOG277067.
    HOGENOMiHOG000168174.
    HOVERGENiHBG024332.
    InParanoidiQ9BVK2.
    KOiK03849.
    OMAiALTLCGY.
    PhylomeDBiQ9BVK2.
    TreeFamiTF315002.

    Family and domain databases

    InterProiIPR004856. Glyco_trans_ALG6/ALG8.
    [Graphical view]
    PANTHERiPTHR12413. PTHR12413. 1 hit.
    PfamiPF03155. Alg6_Alg8. 1 hit.
    [Graphical view]

    Sequences (2)i

    Sequence statusi: Complete.

    This entry describes 2 isoformsi produced by alternative splicing. Align

    Isoform 1 (identifier: Q9BVK2-1) [UniParc]FASTAAdd to Basket

    This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

    « Hide

    MAALTIATGT GNWFSALALG VTLLKCLLIP TYHSTDFEVH RNWLAITHSL    50
    PISQWYYEAT SEWTLDYPPF FAWFEYILSH VAKYFDQEML NVHNLNYSSS 100
    RTLLFQRFSV IFMDVLFVYA VRECCKCIDG KKVGKELTEK PKFILSVLLL 150
    WNFGLLIVDH IHFQYNGFLF GLMLLSIARL FQKRHMEGAF LFAVLLHFKH 200
    IYLYVAPAYG VYLLRSYCFT ANKPDGSIRW KSFSFVRVIS LGLVVFLVSA 250
    LSLGPFLALN QLPQVFSRLF PFKRGLCHAY WAPNFWALYN ALDKVLSVIG 300
    LKLKFLDPNN IPKASMTSGL VQQFQHTVLP SVTPLATLIC TLIAILPSIF 350
    CLWFKPQGPR GFLRCLTLCA LSSFMFGWHV HEKAILLAIL PMSLLSVGKA 400
    GDASIFLILT TTGHYSLFPL LFTAPELPIK ILLMLLFTIY SISSLKTLFR 450
    KEKPLFNWME TFYLLGLGPL EVCCEFVFPF TSWKVKYPFI PLLLTSVYCA 500
    VGITYAWFKL YVSVLIDSAI GKTKKQ 526
    Length:526
    Mass (Da):60,088
    Last modified:April 3, 2007 - v2
    Checksum:i71589A4EC09C3BE7
    GO
    Isoform 2 (identifier: Q9BVK2-2) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         451-526: KEKPLFNWME...DSAIGKTKKQ → RSFTLVAQAGVQWHDLS

    Note: No experimental confirmation available.

    Show »
    Length:467
    Mass (Da):53,181
    Checksum:iC790C4A6964929BF
    GO

    Sequence cautioni

    The sequence CAA12176.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti478 – 4781F → Y in CAA12176. (PubMed:11124703)Curated
    Sequence conflicti503 – 5031I → V in AAH01133. 1 PublicationCurated

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti47 – 471T → P in CDG1H. 1 Publication
    VAR_023480
    Natural varianti222 – 2221N → S.2 Publications
    Corresponds to variant rs665278 [ dbSNP | Ensembl ].
    VAR_023481
    Natural varianti275 – 2751G → D in CDG1H. 1 Publication
    VAR_023482
    Natural varianti439 – 4391I → T.
    Corresponds to variant rs17825668 [ dbSNP | Ensembl ].
    VAR_031596

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei451 – 52676KEKPL…KTKKQ → RSFTLVAQAGVQWHDLS in isoform 2. CuratedVSP_046291Add
    BLAST

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AJ224875 mRNA. Translation: CAA12176.1. Different initiation.
    AP002520 Genomic DNA. No translation available.
    CH471076 Genomic DNA. Translation: EAW75050.1.
    BC001133 mRNA. Translation: AAH01133.1.
    CCDSiCCDS41692.1. [Q9BVK2-2]
    CCDS8258.1. [Q9BVK2-1]
    RefSeqiNP_001007028.1. NM_001007027.2. [Q9BVK2-2]
    NP_076984.2. NM_024079.4. [Q9BVK2-1]
    UniGeneiHs.503368.

    Genome annotation databases

    EnsembliENST00000299626; ENSP00000299626; ENSG00000159063. [Q9BVK2-1]
    ENST00000376156; ENSP00000365326; ENSG00000159063. [Q9BVK2-2]
    GeneIDi79053.
    KEGGihsa:79053.
    UCSCiuc001oyz.1. human.
    uc001oza.1. human. [Q9BVK2-1]

    Polymorphism databases

    DMDMi143811361.

    Keywords - Coding sequence diversityi

    Alternative splicing, Polymorphism

    Cross-referencesi

    Web resourcesi

    GGDB

    GlycoGene database

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AJ224875 mRNA. Translation: CAA12176.1 . Different initiation.
    AP002520 Genomic DNA. No translation available.
    CH471076 Genomic DNA. Translation: EAW75050.1 .
    BC001133 mRNA. Translation: AAH01133.1 .
    CCDSi CCDS41692.1. [Q9BVK2-2 ]
    CCDS8258.1. [Q9BVK2-1 ]
    RefSeqi NP_001007028.1. NM_001007027.2. [Q9BVK2-2 ]
    NP_076984.2. NM_024079.4. [Q9BVK2-1 ]
    UniGenei Hs.503368.

    3D structure databases

    ProteinModelPortali Q9BVK2.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 122511. 5 interactions.
    IntActi Q9BVK2. 2 interactions.
    STRINGi 9606.ENSP00000299626.

    Protein family/group databases

    CAZyi GT57. Glycosyltransferase Family 57.

    PTM databases

    PhosphoSitei Q9BVK2.

    Polymorphism databases

    DMDMi 143811361.

    Proteomic databases

    MaxQBi Q9BVK2.
    PaxDbi Q9BVK2.
    PRIDEi Q9BVK2.

    Protocols and materials databases

    DNASUi 79053.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000299626 ; ENSP00000299626 ; ENSG00000159063 . [Q9BVK2-1 ]
    ENST00000376156 ; ENSP00000365326 ; ENSG00000159063 . [Q9BVK2-2 ]
    GeneIDi 79053.
    KEGGi hsa:79053.
    UCSCi uc001oyz.1. human.
    uc001oza.1. human. [Q9BVK2-1 ]

    Organism-specific databases

    CTDi 79053.
    GeneCardsi GC11M077811.
    GeneReviewsi ALG8.
    HGNCi HGNC:23161. ALG8.
    HPAi HPA051898.
    MIMi 608103. gene.
    608104. phenotype.
    neXtProti NX_Q9BVK2.
    Orphaneti 79325. ALG8-CDG.
    PharmGKBi PA134942124.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG277067.
    HOGENOMi HOG000168174.
    HOVERGENi HBG024332.
    InParanoidi Q9BVK2.
    KOi K03849.
    OMAi ALTLCGY.
    PhylomeDBi Q9BVK2.
    TreeFami TF315002.

    Enzyme and pathway databases

    UniPathwayi UPA00378 .
    Reactomei REACT_22433. Biosynthesis of the N-glycan precursor (dolichol lipid-linked oligosaccharide, LLO) and transfer to a nascent protein.

    Miscellaneous databases

    GeneWikii ALG8.
    GenomeRNAii 79053.
    NextBioi 67803.
    PROi Q9BVK2.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi Q9BVK2.
    Bgeei Q9BVK2.
    CleanExi HS_ALG8.
    Genevestigatori Q9BVK2.

    Family and domain databases

    InterProi IPR004856. Glyco_trans_ALG6/ALG8.
    [Graphical view ]
    PANTHERi PTHR12413. PTHR12413. 1 hit.
    Pfami PF03155. Alg6_Alg8. 1 hit.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    1. "Characterization of 16 novel human genes showing high similarity to yeast sequences."
      Stanchi F., Bertocco E., Toppo S., Dioguardi R., Simionati B., Cannata N., Zimbello R., Lanfranchi G., Valle G.
      Yeast 18:69-80(2001) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), VARIANT SER-222.
      Tissue: Melanocyte.
    2. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    3. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    4. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
      The MGC Project Team
      Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
      Tissue: Skin.
    5. "A deficiency in dolichyl-P-glucose:Glc1Man9GlcNAc2-PP-dolichyl alpha3-glucosyltransferase defines a new subtype of congenital disorders of glycosylation."
      Chantret I., Dancourt J., Dupre T., Delenda C., Bucher S., Vuillaumier-Barrot S., Ogier de Baulny H., Peletan C., Danos O., Seta N., Durand G., Oriol R., Codogno P., Moore S.E.H.
      J. Biol. Chem. 278:9962-9971(2003) [PubMed] [Europe PMC] [Abstract]
      Cited for: INVOLVEMENT IN CONGENITAL DISORDER OF GLYCOSYLATION TYPE I.
    6. "Clinical and molecular features of three patients with congenital disorders of glycosylation type Ih (CDG-Ih) (ALG8 deficiency)."
      Schollen E., Frank C.G., Keldermans L., Reyntjens R., Grubenmann C.E., Clayton P.T., Winchester B.G., Smeitink J., Wevers R.A., Aebi M., Hennet T., Matthijs G.
      J. Med. Genet. 41:550-556(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANTS CDG1H PRO-47 AND ASP-275, VARIANT SER-222.

    Entry informationi

    Entry nameiALG8_HUMAN
    AccessioniPrimary (citable) accession number: Q9BVK2
    Secondary accession number(s): A6NDW6, O60860
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: May 27, 2002
    Last sequence update: April 3, 2007
    Last modified: October 1, 2014
    This is version 126 of the entry and version 2 of the sequence. [Complete history]
    Entry statusiReviewed (UniProtKB/Swiss-Prot)
    Annotation programChordata Protein Annotation Program
    DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

    Miscellaneousi

    Keywords - Technical termi

    Complete proteome, Reference proteome

    Documents

    1. Human chromosome 11
      Human chromosome 11: entries, gene names and cross-references to MIM
    2. Human entries with polymorphisms or disease mutations
      List of human entries with polymorphisms or disease mutations
    3. Human polymorphisms and disease mutations
      Index of human polymorphisms and disease mutations
    4. MIM cross-references
      Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
    5. PATHWAY comments
      Index of metabolic and biosynthesis pathways
    6. SIMILARITY comments
      Index of protein domains and families

    External Data

    Dasty 3